Neurology Clinical Practice · 2024 · 31 citations · 32 references
Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.
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Identification and characterization of a spinal muscular atrophy-determining gene
Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
Jerry R. Mendell, Samiah Al-Zaidy, Richard Shell et al. · New England Journal of Medicine · 2017 · 2.2K citations · Full text
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
Richard S. Finkel, Eugenio Mercuri, Basil T. Darras et al. · New England Journal of Medicine · 2017 · 2.2K citations · Full text